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July 14, 2015

Noninvasive Prenatal Testing and Detection of Maternal Cancer

Author Affiliations
  • 1Perinatology Research Branch, Program for Perinatal Research and Obstetrics, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland
  • 2Department of Obstetrics and Gynecology, University of Michigan, Ann Arbor
  • 3Department of Epidemiology and Biostatistics, Michigan State University, East Lansing
  • 4Center for Molecular Medicine and Genetics, Wayne State University, Detroit, Michigan
  • 5Departments of Genetics, Pediatrics, and Obstetrics & Gynecology, Yale University School of Medicine, New Haven, Connecticut
JAMA. 2015;314(2):131-133. doi:10.1001/jama.2015.7523

Noninvasive prenatal testing (NIPT) to detect fetal aneuploidy (an abnormal number of chromosomes) using massive parallel sequencing of cell-free DNA (cfDNA) from maternal blood is gaining rapid acceptance in obstetrics, given its high sensitivity and specificity for the detection of trisomies 21, 18, and 13. Placental DNA, a surrogate of fetal DNA, enters the maternal bloodstream via apoptosis of trophoblasts in the intervillous space of the placenta, where it mixes with cfDNA of maternal origin. The fetal fraction in this mixture usually varies between 3% and 15% in the late first and second trimesters. NIPT represents a form of advanced screening, and positive results consistent with aneuploidy require confirmation by a diagnostic test using material obtained via amniocentesis or chorionic villus sampling (CVS).1,2

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